@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_head { this: np:hasAssertion dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_assertion; np:hasProvenance dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_provenance; np:hasPublicationInfo dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_publicationInfo; a np:Nanopublication . dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_assertion a np:Assertion . dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_provenance a np:Provenance . dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_publicationInfo a np:PublicationInfo . } dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_assertion { miriam-gene:212 a ncit:C16612 . lld:C0162568 a ncit:C7057 . dgn-gda:DGNf5fd464b1b91c7b3fe2b1514e261e802 sio:SIO_000628 miriam-gene:212, lld:C0162568; a sio:SIO_001121 . } dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_provenance { dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_assertion dcterms:description "[These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23233556; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP197075.RAXKMISQ3ymR1Dj4_FWMv92MdD1arhf2F4pQT7UhQOvwc130_publicationInfo { this: dcterms:created "2014-10-02T12:33:48+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }